マルファン症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)	FBN1	Likely pathogenic	15	48703464	48703464	A	G	criteria provided, single submitter	ClinGen:CA353635
single nucleotide variant	NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)	FBN1	Likely pathogenic	15	48703468	48703468	C	A	criteria provided, single submitter	ClinGen:CA392319546
Deletion	NM_000138.5(FBN1):c.8329del (p.Ile2777fs)	FBN1	Likely pathogenic	15	48703474	48703474	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703477	48703477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017692,OMIM:134797.0017
single nucleotide variant	NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter)	FBN1	Likely pathogenic	15	48703528	48703528	C	A	criteria provided, single submitter	ClinGen:CA16042931
single nucleotide variant	NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)	FBN1	Pathogenic	15	48703535	48703535	C	T	criteria provided, single submitter	ClinGen:CA017671,OMIM:134797.0004
single nucleotide variant	NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)	FBN1	Pathogenic	15	48703536	48703536	C	T	criteria provided, single submitter	ClinGen:CA017666
Indel	NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)	FBN1	Pathogenic	15	48703537	48703538	AA	TCCT	criteria provided, single submitter	ClinGen:CA017652
Deletion	NM_000138.5(FBN1):c.8259del (p.Ala2754fs)	FBN1	Pathogenic	15	48703544	48703544	CA	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8256del (p.Ala2754fs)	FBN1	Pathogenic	15	48703547	48703547	GA	G	criteria provided, single submitter	ClinGen:CA16619938